Screening #0000065386

Individual ID 00065234
Template DNA
Technique SEQ;SEQ-NG
Tissue -
Remarks -
Variants found? 3
Owner name Johan den Dunnen


Genes screened


AscendingSymbol     

Gene     

Chr     

Band

Transcripts     

Variants     

Unique variants     

Last updated     

Associated with diseases
ANO5 anoctamin 5 11 p15.1 1 775 243 2019-09-30 GDD, LGMD-2L, dystrophy, muscular, Miyoshi, type 3
BAG3 BCL2-associated athanogene 3 10 q25.2-q26.2 1 236 127 2019-02-24 CMD-1HH, MFM-6



Variants found

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     

Gene     

Codon change     

IDbase Accession Number     

VariO/DNA     

VariO/Protein     

VariO/RNA     

Exon     

DNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

P-domain     

Exon_old     

DNA/Legacy     

Function/GVS     

Predict/AGVGD     

Predict/Grantham     

Predict/MutationTaster     

Predict/PolyPhen     

Predict/PolyPhenScore     

Predict/SIFT     

Predicted     

Type/DNA     

Conservation     

CpG     

Enzyme activity     

mRNA level     

Predict/CADD     

Predict/Splice     

Protein level     
10 Parent #1 ?/. g.121431813C>T g.119672301C>T S185L - BAG3_000019 - Fichna ESHG2016 P10.20 - - Germline - - - 0 - Johan den Dunnen BAG3 - - - - - 3 NM_004281.3:c.554C>T - - r.(?) p.(Ser185Leu) - - - - - - - - - - - - - - - - - - -
11 Parent #2 +/. g.(22276938G>Aˆ22276939G>A) - W401X - ANO5_000076 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 13 NM_213599.2:c.(1202G>Aˆ1203G>A) - - r.(?) p.(Trp401*) - - - - - - - - - - - - - - - - - - -
11 Parent #1 +/. g.22242704A>G g.22221158A>G D81G - ANO5_000056 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - 0 - Johan den Dunnen ANO5 - - - - - 5 NM_213599.2:c.242A>G - - r.(?) p.(Asp81Gly) - - - - - - - - - - - - - - - - - - -
Legend